{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T23:27:34Z","timestamp":1792193254117,"version":"4.4.0"},"reference-count":44,"publisher":"The Endocrine Society","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1999,12,1]]},"abstract":"<jats:p>We report on clinical features in 14 Japanese patients (4 males and 10 females) with partial monosomy of the short arm pseudoautosomal region involving SHOX (n = 11) or total monosomy of the pseudoautosomal region with no involvement of disease genes on the sex-differential regions (n = 3). Skeletal assessment showed that three patients had no discernible skeletal abnormalities, one patient exhibited short 4th metacarpals and borderline cubitus valgus, and the remaining 10 patients had Madelung deformity and\/or mesomelia characteristic of Le\u0301ri-Weill dyschondrosteosis (LWD), together with short 4th metacarpals and\/or cubitus valgus. Skeletal lesions were more severe in females and became obvious with age. Growth evaluation revealed that patients without LWD grew along by the \u22122 sd growth curve before puberty and showed a normal or exaggerated pubertal growth spurt, whereas those with LWD grew along by the standard growth curves before puberty but exhibited an attenuated pubertal growth spurt and resultant short stature. Maturational assessment indicated a tendency of relatively early maturation in patients with LWD. There was no correlation between the clinical phenotype and the deletion size.<\/jats:p>\n                  <jats:p>These findings suggest that haploinsufficiency of SHOX causes not only short stature but also Turner skeletal anomalies (such as short 4th metacarpals, cubitus valgus, and LWD) and that growth pattern is primarily dependent on the presence or absence of LWD. Because skeletal lesions have occurred in a female-dominant and age-influenced fashion, it is inferred that estrogens exert a maturational effect on skeletal tissues that are susceptible to premature fusion of growth plates because of haploinsufficiency of SHOX, facilitating the development of skeletal lesions.<\/jats:p>","DOI":"10.1210\/jcem.84.12.6289","type":"journal-article","created":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T12:03:55Z","timestamp":1389182635000},"page":"4613-4621","source":"Crossref","is-referenced-by-count":129,"title":["Skeletal Features and Growth Patterns in 14 Patients with Haploinsufficiency of SHOX: Implications for the Development of Turner Syndrome"],"prefix":"10.1210","volume":"84","author":[{"given":"Tomoki","family":"Kosho","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Keio University School of Medicine (T.K., K.M., S.S., N.M., T.O.), Tokyo 160-8582"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koji","family":"Muroya","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Keio University School of Medicine (T.K., K.M., S.S., N.M., T.O.), Tokyo 160-8582"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiro","family":"Nagai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Dokkyo University School of Medicine Koshigaya Hospital (T.N.), Koshigaya 343-0845"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masatoshi","family":"Fujimoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, St. Marianna University School of Medicine (M.F.), Kawasaki 211-0063"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susumu","family":"Yokoya","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Toranomon Hospital (S.Y.), Tokyo 105"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiromi","family":"Sakamoto","sequence":"additional","affiliation":[{"name":"Department of Genetics, Hyogo College of Medicine (H.S.), Nishinomiya 663"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeki","family":"Hirano","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Ibaraki Children\u2019s Medical Center (T.H.), Mito 311"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Terasaki","sequence":"additional","affiliation":[{"name":"Mitsubishi Kagaku Bioclinical Laboratories, Inc. 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